Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A male child with mental retardation and poor growth was found to have a 46,XY,r3 (p26 leads to q29) karyotype in 92% of his peripheral lymphocytes and 90% of his cultured fibroblasts. Comparison of this patient's dysmorphic features with previously reported cases of ring 3 or deletion 3p suggests a clinical syndrome derived mainly from deletion of 3p26 leads to pter. The syndrome consists of mental retardation, pre- and postnatal growth retardation, microcephaly, hypertonia, digital anomalies, and a characteristic facies with ptosis, epicanthal folds, broad nasal root, down-turned corners of the mouth, and dysplastic ears.
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PMID:The phenotype of ring chromosome 3. 715 48

The puborectalis syndrome is a defecation disorder supported by the nonrelaxation of puborectalis sling with consequent dyschezia. We report on a series of 98 patients submitted to clinical examination, defecography, anorectal manometry, electromyography and intestinal transit time studies. Puborectalis anatomy and physiology are briefly reviewed. The main symptoms of puborectalis syndrome in our patients were incomplete defecation (89%) and intermittent evacuation (63%); 28% of patients turned to finger defecation. In all patients, defecography showed an abnormal increase in puborectalis impression on the posterior anorectal wall, reduced anorectal angle opening under straining (mean value: 113 degrees) and prolonged expulsion time with barium pooling in the ampulla (mean evacuation time: 38 seconds). Such anorectal abnormalities as rectal mucosal prolapse (47 cases) and anterior rectocele (36 cases) were also associated. In 33 of 98 patients (34% of cases), sling assessment by bidigital palpation at preliminary clinical examination revealed puborectalis hypertonia, which was later confirmed at defecography. Manometry was not specific for the diagnosis of puborectalis syndrome, detecting increased external anal sphincter pressure under straining in 24 of 35 patients (68.8%). Puborectalis activity was increased under straining in 16 subjects submitted to electromyography. Intestinal transit time studies showed a typical expulsion delay and radiopaque marker pooling in the ampulla in 18 of 23 patients (78.2%). In our experience, defecography is a useful, simple and noninvasive method for the accurate diagnosis of the puborectalis syndrome.
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PMID:[Diagnosis with defecography of puborectal muscle syndrome]. 924 17

An infant is reported who presented with a de novo 21;21 translocation trisomy 21 and an atypical phenotype for Down syndrome (DS). Findings included microcephaly, small stature, downslanting palpebral fissures, absent Brushfield spots, moderate micrognathia, left ptosis, left torticollis, severe developmental delay, seizures, and hypertonia. Further clinical evaluation using both the diagnostic criteria for DS and the Jackson checklist of 25 signs was inconsistent with the diagnosis for DS. Blood karyotype revealed: 46,XX,+21,dic(21;21) (p11.2;p11.2). Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation. Both parents had normal karyotypes. Chromosome and FISH analyses were performed on skin fibroblasts. These studies revealed mosaicism for a translocation trisomy 21 cell line as wel as a second cell line consisting of one normal chromosome 21 and a ring chromosome 21 derived from translocation 21q21q which appeared to have a deletion of the critical region for DS involving the distal portion of the thelong arm of chromosome 21. The chromosome findings illustrate an atypical phenotype in the spectrum of mosaic DS and suggest possible mechanisms for the variability of the phenotype. It also emphasizes the importance of evaluating other tissues for mosaicism when presented with atypical clinical findings.
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PMID:Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21. 1181 53

The objective is to describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism with a Twinkle mutation. The proband, an 82 years old female, reported since childhood bilateral eyelid ptosis, ophthalmoplegia, sensorineural hypoacusis, mild depression since she was 45, with a positive familiar anamnesis of eyelid ptosis (father, two sisters and a son). She developed mild bilateral parkinsonism with a moderate clinical response to levodopa. The (123)I-FP-CIT SCAN evidenced a marked bilateral putaminal reduction and moderate caudate uptake reduction. Her 79 years old sister reported eyelid ptosis since she was 45 with ophthalmoplegia and developed a mild bilateral rest and postural tremor with moderate right arm plastic hypertonia when she was 76. The parkinsonism was confirmed with (123)I-FP-CIT SCAN. One of the two sons presented eyelid ptosis since he was 30 years old, with peripheral neuropathy with biopsy evidence of myopathy. We identified a G1750A mutation in the c10orf2 gene in the three patients. Mitochondrial dysfunction has been implicated in the pathogenesis of sporadic, idiopathic Parkinson disease (PD). In some cases, mitochondrial DNA primary genetic abnormalities or more commonly secondary rearrangements due to polymerase gamma (POLG) gene mutation can directly cause parkinsonism. Parkinsonism has been reported as a rare symptom associated to Twinkle (c10orf2). Parkinsonism has to be investigated in patients with PEO with analysis of Twinkle mutation.
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PMID:Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art. 2407 37